ClinVar for MedGen (Select 382543) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1021878	NM_024592.5(SRD5A3):c.911T>C (p.Val304Ala)	SRD5A3, SRD5A3-AS1 (V304A)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 903282	NM_024592.5(SRD5A3):c.2T>C (p.Met1Thr)	SRD5A3 (M1T)	Single nucleotide variant (missense variant +1 more)	SRD5A3-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 804441	NM_024592.5(SRD5A3):c.484C>T (p.Gln162Ter)	SRD5A3 (Q162*)	Single nucleotide variant (nonsense)	SRD5A3-congenital disorder of glycosylation +1 more	GLikely pathogenic
Select item 632442	NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs)	SRD5A3, SRD5A3-AS1 (F318fs)	Deletion (frameshift variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 96125	NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter)	SRD5A3 (W19*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 30929	NM_024592.5(SRD5A3):c.204dup (p.Phe69fs)	SRD5A3 (F69fs)	Duplication (frameshift variant)	Kahrizi syndrome	GPathogenic

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